Literature DB >> 19520283

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.

Mohammad A Al-Muhaizea1, Zuhair N Al-Hassnan, Aziza Chedrawi.   

Abstract

Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6-related literature is reviewed.

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Year:  2009        PMID： 19520283     DOI： 10.1016/j.pediatrneurol.2009.01.012

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  8 in total

Review 1.  Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

Authors:  R Kohan; I A Cismondi; A M Oller-Ramirez; N Guelbert; Tapia V Anzolini; G Alonso; S E Mole; Dodelson R de Kremer; Noher I de Halac
Journal:  Curr Pharm Biotechnol       Date:  2011-06       Impact factor: 2.837

2.  Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Authors:  Laura Canafoglia; Isabella Gilioli; Federica Invernizzi; Vito Sofia; Valeria Fugnanesi; Michela Morbin; Luisa Chiapparini; Tiziana Granata; Simona Binelli; Vidmer Scaioli; Barbara Garavaglia; Nardo Nardocci; Samuel F Berkovic; Silvana Franceschetti
Journal:  Neurology       Date:  2015-06-26       Impact factor: 9.910

3.  Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Authors:  Todor Arsov; Katherine R Smith; John Damiano; Silvana Franceschetti; Laura Canafoglia; Catherine J Bromhead; Eva Andermann; Danya F Vears; Patrick Cossette; Sulekha Rajagopalan; Alan McDougall; Vito Sofia; Michael Farrell; Umberto Aguglia; Andrea Zini; Stefano Meletti; Michela Morbin; Saul Mullen; Frederick Andermann; Sara E Mole; Melanie Bahlo; Samuel F Berkovic
Journal:  Am J Hum Genet       Date:  2011-05-05       Impact factor: 11.025

4.  Spectrum of paediatric lysosomal storage disorders in oman.

Authors:  Almundher A Al-Maawali; Surendra N Joshi; Roshan L Koul; Ali A Al-Maawali; Hilal S Al-Sedari; Bader M Al-Amri; Amna M Al-Futaisi
Journal:  Sultan Qaboos Univ Med J       Date:  2012-07-15

5.  Opening Pandora's jar: a primer on the putative roles of CRMP2 in a panoply of neurodegenerative, sensory and motor neuron, and central disorders.

Authors:  Rajesh Khanna; Sarah M Wilson; Joel M Brittain; Jill Weimer; Rukhsana Sultana; Allan Butterfield; Kenneth Hensley
Journal:  Future Neurol       Date:  2012-11-01

6.  Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Authors:  Corina-Marcela Rus; Thomas Weissensteiner; Catarina Pereira; Iuliana Susnea; Bright D Danquah; Galina Morales Torres; Maria Eugenia Rocha; Claudia Cozma; Deepa Saravanakumar; Sumanth Mannepalli; Krishna K Kandaswamy; Sebastiano Di Bucchianico; Ralf Zimmermann; Arndt Rolfs; Peter Bauer; Christian Beetz
Journal:  Orphanet J Rare Dis       Date:  2022-05-03       Impact factor: 4.303

7.  Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.

Authors:  R Badilla-Porras; A Echeverri-McCandless; J M Weimer; A Ulate-Campos; A Soto-Rodríguez; A Gutiérrez-Mata; L Hernández-Con; S Bogantes-Ledezma; A Balmaceda-Meza; J Brudvig; A Sanabria-Castro
Journal:  Orphanet J Rare Dis       Date:  2022-01-10       Impact factor: 4.123

8.  Two cases of variant late infantile ceroid lipofuscinosis in Jordan.

Authors:  Omar Nafi; Bashar Ramadan; Olaf Riess; Rebecca Buchert; Tawfiq Froukh
Journal:  World J Clin Cases       Date:  2019-01-26       Impact factor: 1.337
  8 in total

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